What is the definition of DK Phocomelia Syndrome?

DK phocomelia syndrome is a very rare disorder characterized by shortened or absent arms (phocomelia), sac-like protrusions of the brain and the membranes that cover it through openings in the skull (encephalocele), variable brain abnormalities, urogenital abnormalities, and abnormally low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, less than 15 cases have been reported. The exact cause of this condition is unknown; but autosomal recessive inheritance has been suggested.

What are the alternative names for DK Phocomelia Syndrome?

  • Phocomelia thrombocytopenia encephalocele and urogenital malformations
  • Von Voss Cherstvoy syndrome

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